ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 15

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_014000.3(VCL):c.2814C>G (p.Gly938=) rs2131956 0.74148
NM_014000.3(VCL):c.875-24T>A rs1908339 0.65590
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_014000.3(VCL):c.3153+47T>C rs2270550 0.42070
NM_014000.3(VCL):c.2828_2829del (p.Pro943fs) rs781036800 0.00014
NM_014000.3(VCL):c.829C>A (p.Leu277Met) rs71579353 0.00010
NM_014000.3(VCL):c.1309G>A (p.Glu437Lys) rs765607137 0.00001
NM_014000.3(VCL):c.239+6T>G rs752335603 0.00001
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp) rs121917776 0.00001
NM_014000.3(VCL):c.625A>T (p.Met209Leu) rs144683137 0.00001
NM_014000.3(VCL):c.1531G>T (p.Asp511Tyr) rs863225121
NM_014000.3(VCL):c.2030C>T (p.Ser677Leu) rs770869561
NM_014000.3(VCL):c.2359T>A (p.Ser787Thr)
NM_014000.3(VCL):c.2512C>T (p.Gln838Ter)
NM_014000.3(VCL):c.863G>C (p.Ser288Thr) rs138270989

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